Hyperphosphatasia With Intellectual Disability Syndrome 4 C3810354
A rare genetic syndrome causing elevated alkaline phosphatase along with developmental delay and skeletal abnormalities. Care focuses on managing symptoms and providing supportive therapies.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Developmental Physical Therapy
Structured physical therapy program addressing motor delays, muscle hypotonia, and promoting gross motor skill development appropriate to developmental level.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Cognitive-Behavioral Interventions
Behavioral therapy and cognitive support tailored to intellectual disability level, addressing adaptive behaviors and challenging behaviors.
Additional treatment options
Growth and Bone Marker Surveillance
Regular monitoring of alkaline phosphatase levels, growth parameters, and skeletal development with periodic imaging.
monitoringBisphosphonate Therapy Consideration
Bisphosphonates may be considered in select cases with very high bone turnover and fracture risk, though evidence is limited.
complementaryNutritional Support
Balanced nutrition with adequate protein, calcium, and vitamin D supplementation as needed to support bone health and overall development.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Hyperphosphatasia With Intellectual Disability Syndrome 4 C3810354?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy